"GeneDx"[submitter] AND "LOC106799834"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 152355	GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1	ADGRB1, ARC +172 more	Copy number loss	See cases	GPathogenic
Select item 151078	GRCh38/hg38 8q24.3(chr8:142809777-142910556)x3	CYP11B1, GML +4 more	Copy number gain	See cases	GUncertain significance
Select item 362180	NM_000498.3(CYP11B2):c.*735G>A	CYP11B2, LOC106799834	Single nucleotide variant (3 prime UTR variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign
Select item 242772	NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)	CYP11B2, LOC106799834 (V386A)	Single nucleotide variant (missense variant)	Corticosterone methyloxidase type 2 deficiency +3 more	GBenign
Select item 362207	NM_000498.3(CYP11B2):c.873G>A (p.Ala291=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone methyloxidase type 2 deficiency +4 more	GBenign
Select item 718479	NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 388547	NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1698045	NM_000498.3(CYP11B2):c.623G>A (p.Arg208Gln)	CYP11B2, LOC106799834 (R208Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 362215	NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	Corticosterone 18-monooxygenase deficiency +3 more	GBenign/Likely benign
Select item 242773	NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp)	CYP11B2, LOC106799834 (R181W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362220	NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg)	CYP11B2, LOC106799834 (K173R)	Single nucleotide variant (missense variant)	Corticosterone 18-monooxygenase deficiency +4 more	GBenign
Select item 362221	NM_000498.3(CYP11B2):c.504C>T (p.Phe168=)	CYP11B2, LOC106799834	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1073636	NM_000498.3(CYP11B2):c.421C>T (p.Arg141Ter)	CYP11B2, LOC106799834 (R141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic